Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up and future directions

In the absence of prospective data on neurological symptoms, disease outcome, or guidelines for system specific management in PMM2-CDG, we aimed to collect and review natural history data. Fifty-one molecularly confirmed individuals with PMM2-CDG enrolled in the FCDGC natural history study were reviewed. In addition, we prospectively reviewed a smaller cohort of these individuals with PMM2-CDG on off-label acetazolamide treatment. […] Clinical and radiological findings suggest both neurodevelopmental and neurodegenerative pathophysiology. Seizures may manifest at any age and are responsive to levetiracetam monotherapy in most cases. Febrile seizure is the most common trigger for SLEs. Acetazolamide is well tolerated.